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    Tmem126a transmembrane protein 126A [ Mus musculus (house mouse) ]

    Gene ID: 66271, updated on 5-Mar-2024

    Summary

    Official Symbol
    Tmem126aprovided by MGI
    Official Full Name
    transmembrane protein 126Aprovided by MGI
    Primary source
    MGI:MGI:1913521
    See related
    Ensembl:ENSMUSG00000030615 AllianceGenome:MGI:1913521
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1810020E01Rik
    Summary
    Predicted to be involved in mitochondrial respiratory chain complex I assembly and optic nerve development. Located in mitochondrion. Human ortholog(s) of this gene implicated in optic atrophy 7. Orthologous to human TMEM126A (transmembrane protein 126A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 24.4), CNS E18 (RPKM 17.1) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Tmem126a in Genome Data Viewer
    Location:
    7 E1; 7 50.59 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (90099908..90106411, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (90450700..90457203, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10450 Neighboring gene STARR-positive B cell enhancer ABC_E352 Neighboring gene STARR-seq mESC enhancer starr_19512 Neighboring gene STARR-seq mESC enhancer starr_19513 Neighboring gene transmembrane protein 126B Neighboring gene coiled-coil domain containing 89 Neighboring gene CREB/ATF bZIP transcription factor Neighboring gene STARR-seq mESC enhancer starr_19514 Neighboring gene discs large MAGUK scaffold protein 2 Neighboring gene STARR-seq mESC enhancer starr_19515 Neighboring gene predicted gene, 57513

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 
    • Endonuclease-mediated (1) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in optic nerve development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within toll-like receptor 4 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_025460.3NP_079736.1  transmembrane protein 126A

      See identical proteins and their annotated locations for NP_079736.1

      Status: VALIDATED

      Source sequence(s)
      AC100322, AK007559
      Consensus CDS
      CCDS21447.1
      UniProtKB/Swiss-Prot
      Q9D8Y1
      Related
      ENSMUSP00000032844.6, ENSMUST00000032844.7
      Conserved Domains (1) summary
      pfam07114
      Location:14187
      DUF1370; Protein of unknown function (DUF1370)

    RNA

    1. NR_157050.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC100322, AK007559, AK050267
      Related
      ENSMUST00000136652.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      90099908..90106411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)